Alpha Glucosidase
Background:
Investigation of Pompe disease
For screening: 5 mL blood or blood spot card
For confirmation of a positive screen: 5 mL blood - samples must be received by the referral laboratory within 72 hours, so prior arrangement with the Duty Biochemist is advised.
Other Comments:
Analysed at Willink Biochemical Genetics Laboratory, Genomic Diagnostics Laboratories, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, 6th Floor, Pod 1, St Mary's Hospital, Oxford Road, Manchester, M13 9WL
Interpretive comment provided by referral laboratory.
About This Test
Department: Biochemistry (referred)
Requirement:
- EDTA (purple top)
Turnaround Time:
6 - 8 weeks